Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.

Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.

Journal of immunology (Baltimore, Md. : 1950) (2017-02-01)

Ming Sin Cheung, Katerina Theodoropoulou, Jérôme Lugrin, Fabio Martinon, Nathalie Busso, Michaël Hofer

摘要

Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects children. Although tendencies were reported for this syndrome, genetic variations influencing risk and disease progression are poorly understood. In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the

材料

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品牌

产品描述

A2220

Millipore

抗-FLAG^® M2亲和凝胶, purified immunoglobulin, buffered aqueous glycerol solution

V4888

Sigma-Aldrich

抗 VSV-G 兔抗, affinity isolated antibody, buffered aqueous solution

6B100

Sigma-Aldrich

Sepharose^™ 6B, 6% Beaded Agarose, 45-165 μm (wet), fractionation range 10,000-1,000,000 Da (dextrans)